Variant report

Variant	nsv879546
Chromosome Location	chr4:91546380-91606389
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr4:91547889-91548089	K562	blood:	n/a	n/a
2	CEBPB	chr4:91581839-91582171	K562	blood:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
3	CEBPB	chr4:91581814-91582158	H1-hESC	embryonic stem cell:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
4	CEBPB	chr4:91581805-91582181	IMR90	lung:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
5	CEBPB	chr4:91572954-91573101	A549	lung:	n/a	chr4:91573045-91573056
6	CEBPB	chr4:91572930-91573132	HepG2	liver:	n/a	chr4:91573045-91573056
7	CEBPB	chr4:91581833-91582228	A549	lung:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
8	CEBPB	chr4:91581813-91582180	HepG2	liver:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
9	CEBPB	chr4:91581826-91582080	A549	lung:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
10	CEBPB	chr4:91581817-91582162	Hela-S3	cervix:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
11	CEBPB	chr4:91581883-91582230	MCF-7	breast:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
12	CEBPB	chr4:91581884-91582127	ECC-1	luminal epithelium:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
13	CEBPB	chr4:91581881-91582081	MCF-7	breast:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
14	CEBPB	chr4:91581812-91582169	A549	lung:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
15	CTCF	chr4:91563140-91563290	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr4:91563140-91563290	HMEC	breast:	n/a	n/a
17	CTCF	chr4:91583327-91583418	GM13977	blood:	n/a	n/a
18	CTCF	chr4:91563100-91563250	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr4:91563160-91563310	WERI-Rb-1	eye:	n/a	n/a
20	CTCF	chr4:91563100-91563250	HMEC	breast:	n/a	n/a
21	CTCF	chr4:91563140-91563290	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr4:91563154-91563254	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr4:91563121-91563289	Gliobla	brain:	n/a	n/a
24	CTCF	chr4:91563180-91563330	HAc	cerebellar:	n/a	n/a
25	CTCF	chr4:91563163-91563241	HepG2	liver:	n/a	n/a
26	CTCF	chr4:91563732-91563781	GM13977	blood:	n/a	n/a
27	CTCF	chr4:91590640-91590790	AG10803	skin:	n/a	n/a
28	CTCF	chr4:91563080-91563230	SAEC	small airway:	n/a	n/a
29	CTCF	chr4:91563040-91563190	SAEC	small airway:	n/a	n/a
30	E2F4	chr4:91585122-91585322	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr4:91568594-91568730	MCF10A-Er-Src	breast:	n/a	n/a
32	EBF1	chr4:91591266-91591821	GM12878	blood:	n/a	chr4:91591567-91591578
33	EBF1	chr4:91591438-91591741	GM12878	blood:	n/a	chr4:91591567-91591578
34	EBF1	chr4:91591375-91591736	GM12878	blood:	n/a	chr4:91591567-91591578
35	EP300	chr4:91591376-91591612	GM12878	blood:	n/a	n/a
36	FAM48A	chr4:91554971-91555011	GM12878	blood:	n/a	n/a
37	FOS	chr4:91563422-91563629	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr4:91563495-91563644	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr4:91590035-91590161	MCF10A-Er-Src	breast:	n/a	chr4:91590145-91590154
40	FOS	chr4:91563484-91563614	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr4:91563386-91563687	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr4:91546948-91547106	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr4:91553692-91553759	MCF10A-Er-Src	breast:	n/a	n/a
44	FOSL2	chr4:91596714-91596927	HepG2	liver:	n/a	n/a
45	FOXA1	chr4:91551145-91551291	T-47D	breast:	n/a	n/a
46	FOXA1	chr4:91551095-91551454	T-47D	breast:	n/a	n/a
47	FOXA2	chr4:91602296-91602678	A549	lung:	n/a	n/a
48	FOXA2	chr4:91596698-91596984	A549	lung:	n/a	n/a
49	FOXA2	chr4:91602061-91602649	A549	lung:	n/a	n/a
50	GATA1	chr4:91569695-91570762	PBDE	blood:	n/a	chr4:91570171-91570192 chr4:91570176-91570186 chr4:91570173-91570189

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:91570154-91570204	Hela-S3	cervix:	n/a
2	chr4:91570600-91570650	HEEpiC	esophagus:	n/a
3	chr4:91570154-91570204	BJ	skin:	n/a
4	chr4:91570154-91570204	SK-N-SH	brain:	n/a
5	chr4:91570600-91570650	HUVEC	blood vessel:	n/a
6	chr4:91570154-91570204	T-47D	breast:	n/a
7	chr4:91570600-91570650	SAEC	small airway:	n/a
8	chr4:91570154-91570204	H1-hESC	embryonic stem cell:	embryo
9	chr4:91570600-91570650	T-47D	breast:	n/a
10	chr4:91570154-91570204	HEEpiC	esophagus:	n/a
11	chr4:91570600-91570650	Jurkat	blood:	n/a
12	chr4:91570154-91570204	AG09309	skin:	n/a
13	chr4:91570154-91570204	ProgFib	skin:	n/a
14	chr4:91570600-91570650	HL-60	blood:	n/a
15	chr4:91570154-91570204	ECC-1	luminal epithelium:	n/a
16	chr4:91570600-91570650	HRE	kidney:	n/a
17	chr4:91570600-91570650	HMEC	breast:	n/a
18	chr4:91570154-91570204	ovcar-3	ovarian:	n/a
19	chr4:91570154-91570204	PANC-1	pancreas:	n/a
20	chr4:91570154-91570204	HEK293	kidney:	embryo
21	chr4:91570154-91570204	AG04450	lung:	fetal
22	chr4:91570600-91570650	HCPEpiC	choroid plexus:	n/a
23	chr4:91570154-91570204	SKMC	muscle:	n/a
24	chr4:91570600-91570650	MCF-7	breast:	n/a
25	chr4:91570600-91570650	AG04450	lung:	fetal
26	chr4:91570600-91570650	ECC-1	luminal epithelium:	n/a
27	chr4:91570600-91570650	Hepatocyte	liver:	n/a
28	chr4:91570600-91570650	HRPEpiC	eye:	n/a
29	chr4:91570600-91570650	CMK	blood:	n/a
30	chr4:91570600-91570650	NHDF-neo	bronchial:	n/a
31	chr4:91570154-91570204	HIPEpiC	eye:	n/a
32	chr4:91570600-91570650	SK-N-SH	brain:	n/a
33	chr4:91570154-91570204	IMR90	lung:	fetal
34	chr4:91570600-91570650	AG09319	gingival:	n/a
35	chr4:91570154-91570204	HepG2	liver:	n/a
36	chr4:91570154-91570204	HCM	heart:	n/a
37	chr4:91570154-91570204	HL-60	blood:	n/a
38	chr4:91570154-91570204	NHBE	bronchial:	n/a
39	chr4:91570154-91570204	GM19239	blood:	n/a
40	chr4:91570600-91570650	GM12878	blood:	n/a
41	chr4:91570154-91570204	SK-N-MC	brain:	n/a
42	chr4:91570600-91570650	PANC-1	pancreas:	n/a
43	chr4:91570154-91570204	NB4	blood:	n/a
44	chr4:91570154-91570204	A549	lung:	n/a
45	chr4:91570154-91570204	HRE	kidney:	n/a
46	chr4:91570154-91570204	GM12892	blood:	n/a
47	chr4:91570600-91570650	ovcar-3	ovarian:	n/a
48	chr4:91570154-91570204	SAEC	small airway:	n/a
49	chr4:91570154-91570204	HMEC	breast:	n/a
50	chr4:91570154-91570204	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:91581426..91583883-chr4:91587486..91589501,2	MCF-7	breast:
2	chr4:91545051..91546944-chr4:91557103..91559359,2	MCF-7	breast:
3	chr4:91545051..91546944-chr4:91557103..91559359,2	MCF-7	breast:
4	chr4:91581426..91583883-chr4:91587486..91589501,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MMRN1-6	chr4:91570659-91570775	NONHSAT097411

Variant related genes	Relation type
ENSG00000251401	TF binding region
CCSER1	TF binding region
ENSG00000251401	CpG island
CCSER1	CpG island

Extended variants
information (count: 964 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:964 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9790562	chr4:91546380-91546381	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533778891	chr4:91546484-91546485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369543959	chr4:91546494-91546495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547626497	chr4:91546522-91546523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567438637	chr4:91546574-91546575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs57663300	chr4:91546582-91546583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs144209647	chr4:91546583-91546584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185403584	chr4:91546623-91546624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146538118	chr4:91546651-91546652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73833737	chr4:91546684-91546685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs572487626	chr4:91546730-91546731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541134000	chr4:91546768-91546769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1629951	chr4:91546831-91546832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367574906	chr4:91546834-91546835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1629880	chr4:91546854-91546855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554764568	chr4:91546931-91546932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111708776	chr4:91546962-91546963	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs373526688	chr4:91546963-91546964	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs574646097	chr4:91547008-91547009	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs569379914	chr4:91547036-91547037	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs543745502	chr4:91547037-91547038	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs189927422	chr4:91547062-91547063	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs1628127	chr4:91547068-91547069	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs193294259	chr4:91547072-91547073	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs544971313	chr4:91547108-91547109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564689540	chr4:91547134-91547135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73833738	chr4:91547161-91547162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547467335	chr4:91547169-91547170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567480417	chr4:91547185-91547186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78896878	chr4:91547222-91547223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550148814	chr4:91547228-91547229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558341845	chr4:91547268-91547269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569913766	chr4:91547287-91547288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538692870	chr4:91547310-91547311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558926480	chr4:91547321-91547322	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs565908907	chr4:91547322-91547323	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs567038087	chr4:91547342-91547343	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs534796438	chr4:91547421-91547422	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs184733295	chr4:91547430-91547431	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs200630750	chr4:91547475-91547476	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs188321164	chr4:91547516-91547517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556126690	chr4:91547520-91547521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557902621	chr4:91547547-91547548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs151323656	chr4:91547580-91547581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17017310	chr4:91547593-91547594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs367988054	chr4:91547603-91547604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557402867	chr4:91547614-91547615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577478662	chr4:91547622-91547623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546148721	chr4:91547631-91547632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76054474	chr4:91547636-91547637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91540800-91550400	Weak transcription	Fetal Intestine Small	intestine
2	chr4:91542400-91549200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:91545800-91546400	Enhancers	Fetal Kidney	kidney
4	chr4:91546200-91554000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:91547400-91549000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr4:91548800-91551400	Weak transcription	Left Ventricle	heart
7	chr4:91549000-91550000	Strong transcription	Primary B cells from peripheral blood	blood
8	chr4:91549200-91549600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:91549200-91550800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:91549600-91550400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:91550000-91551600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr4:91550400-91550800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:91550800-91564400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:91550800-91566800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:91554000-91554200	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr4:91566800-91567400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:91567000-91567600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:91596600-91596800	Active TSS	K562	blood
19	chr4:91596600-91597000	Enhancers	Primary T cells from cord blood	blood
20	chr4:91596600-91597000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr4:91596800-91597000	Flanking Active TSS	K562	blood

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